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■ Abbreviation / Long Form : LCA / Leber congenital amaurosis

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Total Number of Papers: 482
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Abbreviation:   LCA  (>> Co-occurring Abbreviation)
Long Form:   Leber congenital amaurosis
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2019 A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. EORD, IRD, WES
2019 A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. ---
2019 Attitudes of people with inherited retinal conditions toward gene editing technology. RP
2019 Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. WES
2019 Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration. CNV, EOSRD
2019 Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish. CEP290, TZ
2019 CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum ---
2019 CRB2 Loss in Rod Photoreceptors Is Associated with Progressive Loss of Retinal Contrast Sensitivity. CRB1, OKT, RP
2019 Gene delivery to cone photoreceptors by subretinal injection of rAAV2/6 in the mouse retina. AAV, rAAV
10  2019 Generation and Characterization of Induced Pluripotent Stem Cells and Retinal Organoids From a Leber's Congenital Amaurosis Patient With Novel RPE65 Mutations. hiPSCs, RPE
11  2019 Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis. iPSC
12  2019 In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies. ALMS, BBS, ER, ERG, RD, T.E.M
13  2019 Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking. ---
14  2019 Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision. ---
15  2019 Loss of CRB2 in Muller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype. CRB1, MGCs, NHP, RP
16  2019 Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy. RPE, SVD
17  2019 Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy. IRD, RP, TES
18  2019 Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population. CRD-6, IBD, VUS
19  2019 Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives. RDH12
20  2019 RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China. FA-like, HRD
21  2019 Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population. ---
22  2019 Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque. AAV, retGC1
23  2019 Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families. CRD, IRDs, MIPs, RP
24  2019 The findings of optical coherence tomography of retinal degeneration in relation to the morphological and electroretinographic features in RPE65-/- mice. ERG, IS-EZ, OCT, RP
25  2019 The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified. NGS, RD
26  2019 Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence. OCT, RP
27  2019 Use of AAV Vectors for CRISPR-Mediated In Vivo Genome Editing in the Retina. AAV, RP
28  2018 A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration. ---
29  2018 A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis. CRD, RP
30  2018 A Mini-Review: Leber Congenital Amaurosis: Identification of Disease-Causing Variants and Personalised Therapies. IRDs
31  2018 AAV Gene Augmentation Therapy for CRB1-Associated Retinitis Pigmentosa. AAV, RP
32  2018 Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness. ---
33  2018 Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290. AONs
34  2018 Central retinal preservation in rdAc cats. EZ, SD-OCT
35  2018 Children with blindness - major causes, developmental outcomes and implications for habilitation and educational support: a two-decade, Swedish population-based study. ASD, ID, ONA, ONH, ROP
36  2018 Ciliopathy: Alstrom Syndrome. PCOS
37  2018 Ciliopathy: Senior-Loken Syndrome. RP
38  2018 Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice. PR, RP, RPE
39  2018 G protein-coupled receptors differentially regulate glycosylation and activity of the inwardly rectifying potassium channel Kir7.1. GPCRs, MC4R
40  2018 Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis. AAV
41  2018 Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. NGS
42  2018 Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. adCRD, GC-E, GCAPs, KO
43  2018 Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1. CNNM4
44  2018 Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing. RPGR
45  2018 IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration. IFT52, SRTD, WGS
46  2018 Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies. FAF, VA
47  2018 Leber Congenital Amaurosis. BCVA, EORD, ERG, RP
48  2018 Leber's Congenital Amaurosis and Gene Therapy. ---
49  2018 Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. IRD, MIPs
50  2018 Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. IRD, TS
51  2018 Mutation in the Zebrafish cct2 Gene Leads to Abnormalities of Cell Cycle and Cell Death in the Retina: A Model of CCT2-Related Leber Congenital Amaurosis. CCT, dpf
52  2018 NMNAT1 variants cause cone and cone-rod dystrophy. ---
53  2018 Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy. CACNA1F, ERG
54  2018 Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene. ACHM, ALMS, BCVA, CORD, FAF, ISCEV, RD, SD-OCT
55  2018 Overexpression of Type 3 Iodothyronine Deiodinase Reduces Cone Death in the Leber Congenital Amaurosis Model Mice. TH
56  2018 Pharmacotherapy of retinal disease with visual cycle modulators. AMD, RP, RPE, SMD, VCMs
57  2018 Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype. ERG, ONL, SLS
58  2018 Roles of Nmnat1 in the survival of retinal progenitors through the regulation of pro-apoptotic gene expression via histone acetylation. NAD, Nmnat1, sh, SIRT
59  2018 Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis. AAV, vg
60  2018 Specific retinal phenotype in early IQCB1-related disease. BCVA, ERG, SD-OCT
61  2018 Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA. AAV, LCA10
62  2018 The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors. AIPL1
63  2018 [Ciliopathies]. BBS
64  2018 [Clinical research progress of gene therapy for Leber hereditary optic neuropathy]. LHON, RGCs
65  2017 A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis. ---
66  2017 Applications of CRISPR/Cas9 in retinal degenerative diseases. AAV, Cas9, CRISPR, iPSCs, RP
67  2017 Available Evidence on Leber Congenital Amaurosis and Gene Therapy. ---
68  2017 Correlation of ultra-widefield fundus autofluorescence patterns with the underlying genotype in retinal dystrophies and retinitis pigmentosa. RP, UW-FAF
69  2017 CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. AAV, CRISPR
70  2017 Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations. FST, OCT, VFQ
71  2017 Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. NGS
72  2017 InVitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations. iPSCs, JSRD
73  2017 Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee. ---
74  2017 Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. EOSRD
75  2017 Leber's congenital amaurosis and the role of gene therapy in congenital retinal disorders. RPE
76  2017 Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. ---
77  2017 Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. MT, TUBB4B
78  2017 Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene. FST, OCI, OCT, TPLR
79  2017 Peripapillary sparing in RDH12-associated Leber congenital amaurosis. ---
80  2017 Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis. RDH12
81  2017 Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene. MRI
82  2017 Potential of Gene Editing and Induced Pluripotent Stem Cells (iPSCs) in Treatment of Retinal Diseases. AAV, iPSCs, RP
83  2017 Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells. PLR
84  2017 Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish. RP, RPGRIP1
85  2017 Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients. CORD, RP
86  2017 The clinical evaluation of infantile nystagmus: What to do first and why. ---
87  2017 The genetic profile of Leber congenital amaurosis in an Australian cohort. ---
88  2017 The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA. ERG, NGS, OD, OS
89  2017 The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6. AIPL1, cGMP, TPR
90  2017 Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. BCD, BSPD, IRDs, WES
91  2017 [Gene therapy for vision restoration in patients with Leber congenital amaurosis (LCA) due to RPE65 gene mutations: beginning the phase IV trial]. ---
92  2016 ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. CORD
93  2016 Bicarbonate and Ca(2+) Sensing Modulators Activate Photoreceptor ROS-GC1 Synergistically. CCD, GCAPs, JMD
94  2016 CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability. CCT2, iPSCs
95  2016 Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. ERGs, FFA, NGS, SD-OCT, UWF SLO
96  2016 Comprehensive analysis of genetic variations in strictly-defined Leber congenital amaurosis with whole-exome sequencing in Chinese. FATHMM, SIFT, SNVs
97  2016 Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. LOVD
98  2016 Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases. arRP, CRD, IRD, NGS, RP
99  2016 Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. ---
100  2016 Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups. RPE